Variable Clinical Phenotypes of α-Thalassemia Syndromes

Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H di...

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Main Author: Sylvia Titi Singer
Format: Article
Language:English
Published: Wiley 2009-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1100/tsw.2009.69
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author Sylvia Titi Singer
author_facet Sylvia Titi Singer
author_sort Sylvia Titi Singer
collection DOAJ
description Genetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other α-thalassemia variants) call for more attention for improved screening methods and better care.
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spelling doaj-art-10325fa3dfd5437caf7b156d8718ff842025-08-20T03:55:44ZengWileyThe Scientific World Journal1537-744X2009-01-01961562510.1100/tsw.2009.69Variable Clinical Phenotypes of α-Thalassemia SyndromesSylvia Titi Singer0Hematology/Oncology Department, Children's Hospital and Research Center (CHRCO), Oakland, CA, United StatesGenetic mutations of the α genes are common worldwide. In Asia and particularly Southeast Asia, they can result in clinically significant types of α-thalassemia, namely hemoglobin (Hb) H disease and Hb Bart's hydrops fetalis. The latter is generally a fatal intrauterine condition, while Hb H disease results in clinical complications that are frequently overlooked. The high prevalence of the carrier state and the burden of these diseases (and other α-thalassemia variants) call for more attention for improved screening methods and better care.http://dx.doi.org/10.1100/tsw.2009.69
spellingShingle Sylvia Titi Singer
Variable Clinical Phenotypes of α-Thalassemia Syndromes
The Scientific World Journal
title Variable Clinical Phenotypes of α-Thalassemia Syndromes
title_full Variable Clinical Phenotypes of α-Thalassemia Syndromes
title_fullStr Variable Clinical Phenotypes of α-Thalassemia Syndromes
title_full_unstemmed Variable Clinical Phenotypes of α-Thalassemia Syndromes
title_short Variable Clinical Phenotypes of α-Thalassemia Syndromes
title_sort variable clinical phenotypes of α thalassemia syndromes
url http://dx.doi.org/10.1100/tsw.2009.69
work_keys_str_mv AT sylviatitisinger variableclinicalphenotypesofathalassemiasyndromes